Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

T Milenkovic; M Guc-Scekic; D Zdravkovic; V Topic; T Liehr; G Joksic; D Radivojevic; N Lakic

doi:10.2478/v10034-011-0049-5

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Molecular Analysis of Ring Y Chromosome in a 10-Year-Old Boy with Mixed Gonadal Dysgenesis and Growth Hormone Deficiency

Balkan Journal of Medical Genetics

Volume 14 (2011): Issue 2 (December 2011)

By: T Milenkovic, M Guc-Scekic, D Zdravkovic, V Topic, T Liehr, G Joksic, D Radivojevic and N Lakic

Open Access

|Dec 2011

Abstract

Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of cells monosomic for the X-chromosome, but also by the presence of severe GH deficiency. The ring Y chromosome in our patient is a de novo structural aberration. The father's karyotype was normal.

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Articles in this issue

DOI: https://doi.org/10.2478/v10034-011-0049-5 | Journal eISSN: 2199-5761 | Journal ISSN: 1311-0160

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Language: English

Page range: 71 - 76

Published on: Dec 8, 2011

Published by: Macedonian Academy of Sciences and Arts

In partnership with: Paradigm Publishing Services

Publication frequency: 2 issues per year

Keywords:

Growth hormone (GH) deficiency,

Mixed gonadal dysgenesis (MGD),

Mosaicism,

Ring Y chromosome

Related subjects:

Medicine,

Basic medical science,

Basic medical science, other

© 2011 T Milenkovic, M Guc-Scekic, D Zdravkovic, V Topic, T Liehr, G Joksic, D Radivojevic, N Lakic, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 14 (2011): Issue 2 (December 2011)